Incidental Mutation 'R3008:Tex11'
| ID |
257452 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tex11
|
| Ensembl Gene |
ENSMUSG00000009670 |
| Gene Name |
testis expressed gene 11 |
| Synonyms |
4930565P14Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.221)
|
| Stock # |
R3008 (G1)
|
| Quality Score |
222 |
|
Status
|
Not validated
|
| Chromosome |
X |
| Chromosomal Location |
99882254-100103245 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 99977021 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Serine
at position 487
(A487S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109347
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000009814]
[ENSMUST00000113716]
[ENSMUST00000113718]
|
| AlphaFold |
Q14AT2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000009814
AA Change: A487S
PolyPhen 2
Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000009814
Gene: ENSMUSG00000009670
AA Change: A487S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SPO22
|
176 |
431 |
1.1e-62 |
PFAM |
|
low complexity region
|
702 |
713 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000113716
AA Change: A487S
PolyPhen 2
Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000109345
Gene: ENSMUSG00000009670
AA Change: A487S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SPO22
|
175 |
433 |
2.1e-70 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000113718
AA Change: A487S
PolyPhen 2
Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000109347
Gene: ENSMUSG00000009670
AA Change: A487S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SPO22
|
175 |
433 |
3.8e-70 |
PFAM |
|
low complexity region
|
702 |
713 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.3188 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is X-linked and is expressed in only male germ cells. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Miche homozygous for a knockout allele exhibit abnormal male meiosis. Mice homozygous for a conditional knockout exhibit male infertility and reduced female fecundity due to abnormal meiosis following cre recombination. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2fm2 |
T |
C |
3: 59,652,930 (GRCm39) |
L123P |
possibly damaging |
Het |
| Acap3 |
T |
C |
4: 155,990,139 (GRCm39) |
I773T |
probably benign |
Het |
| Atm |
A |
C |
9: 53,392,050 (GRCm39) |
F1780V |
probably benign |
Het |
| Cers5 |
A |
G |
15: 99,670,598 (GRCm39) |
|
probably benign |
Het |
| Cldn19 |
T |
G |
4: 119,112,987 (GRCm39) |
L73R |
probably damaging |
Het |
| Cntnap5c |
A |
G |
17: 58,666,204 (GRCm39) |
Y1078C |
probably damaging |
Het |
| Foxo6 |
A |
T |
4: 120,125,961 (GRCm39) |
M278K |
probably benign |
Het |
| Gm10277 |
T |
A |
11: 77,676,362 (GRCm39) |
|
probably benign |
Het |
| Gm4871 |
A |
T |
5: 144,966,627 (GRCm39) |
D285E |
probably damaging |
Het |
| Gpd2 |
C |
T |
2: 57,228,987 (GRCm39) |
R264* |
probably null |
Het |
| Ighv1-85 |
A |
T |
12: 115,963,704 (GRCm39) |
Y99N |
probably damaging |
Het |
| Ighv7-1 |
A |
T |
12: 113,860,071 (GRCm39) |
L107Q |
probably damaging |
Het |
| Kif17 |
A |
G |
4: 138,005,476 (GRCm39) |
D347G |
probably damaging |
Het |
| Med22 |
T |
C |
2: 26,798,396 (GRCm39) |
|
probably benign |
Het |
| Mme |
T |
A |
3: 63,266,378 (GRCm39) |
N551K |
probably damaging |
Het |
| Mpp7 |
G |
A |
18: 7,461,678 (GRCm39) |
P65L |
possibly damaging |
Het |
| Muc2 |
A |
T |
7: 141,281,347 (GRCm39) |
H475L |
possibly damaging |
Het |
| Nfix |
CAAAAA |
CAAAA |
8: 85,442,876 (GRCm39) |
|
probably null |
Het |
| Or8s10 |
G |
A |
15: 98,335,857 (GRCm39) |
C169Y |
probably damaging |
Het |
| Pdp2 |
T |
A |
8: 105,320,898 (GRCm39) |
I249N |
probably benign |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
| Slc26a9 |
G |
T |
1: 131,693,652 (GRCm39) |
G714V |
probably damaging |
Het |
| Tarbp1 |
G |
A |
8: 127,174,160 (GRCm39) |
T882I |
possibly damaging |
Het |
| Ubr5 |
A |
G |
15: 38,031,089 (GRCm39) |
S398P |
probably benign |
Het |
|
| Other mutations in Tex11 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00536:Tex11
|
APN |
X |
100,076,165 (GRCm39) |
missense |
probably null |
0.00 |
|
IGL00838:Tex11
|
APN |
X |
100,015,724 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL02385:Tex11
|
APN |
X |
99,920,135 (GRCm39) |
splice site |
probably benign |
|
|
R2958:Tex11
|
UTSW |
X |
99,977,021 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R2960:Tex11
|
UTSW |
X |
99,977,021 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R2963:Tex11
|
UTSW |
X |
99,977,021 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R3009:Tex11
|
UTSW |
X |
99,977,021 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R3010:Tex11
|
UTSW |
X |
99,977,021 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R3011:Tex11
|
UTSW |
X |
99,977,021 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R3745:Tex11
|
UTSW |
X |
99,960,178 (GRCm39) |
missense |
probably benign |
0.33 |
|
R3881:Tex11
|
UTSW |
X |
99,977,021 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R3882:Tex11
|
UTSW |
X |
99,977,021 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R4081:Tex11
|
UTSW |
X |
99,977,021 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R4082:Tex11
|
UTSW |
X |
99,977,021 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R4159:Tex11
|
UTSW |
X |
99,977,021 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R4172:Tex11
|
UTSW |
X |
99,977,021 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R4197:Tex11
|
UTSW |
X |
99,977,021 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R4201:Tex11
|
UTSW |
X |
99,977,021 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R4204:Tex11
|
UTSW |
X |
99,977,021 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R4206:Tex11
|
UTSW |
X |
99,977,021 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R4304:Tex11
|
UTSW |
X |
99,977,021 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R4305:Tex11
|
UTSW |
X |
99,977,021 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R8726:Tex11
|
UTSW |
X |
100,059,191 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8727:Tex11
|
UTSW |
X |
100,059,191 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTCAAATGATGGTTTCCCGAATTC -3'
(R):5'- GAGTACTCCTCAACAATTGTGTC -3'
Sequencing Primer
(F):5'- AATGATGGTTTCCCGAATTCTTGTC -3'
(R):5'- GCCATAGCAGAAGTTGAG -3'
|
| Posted On |
2015-01-11 |
Incidental Mutation